| children | - 2-hydroxyglutaric aciduria 698870008
- 3 beta-Hydroxysteroid dehydrogenase deficiency 54470008
- 46,XY partial gonadal dysgenesis 725045004
- Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome 718715007
- Adrenoleukodystrophy 65389002
- Adrenomyodystrophy 763311001
- Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome 720981000
- Alopecia, progressive neurological defect, endocrinopathy syndrome 770941005
- Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome 720519003
- Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome 722288007
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 717045004
- Autosomal dominant hyperinsulinism due to SUR1 deficiency 717046003
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 783768006
- Autosomal recessive hyperinsulinism due to SUR1 deficiency 783767001
- Bamforth Lazarus syndrome 722375007
- Beckwith-Wiedemann syndrome 81780002
- Boucher Neuhäuser syndrome 715984007
- Carney complex 733491005
- Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome 776204008
- Combined pituitary hormone deficiency genetic form 718182008
- Congenital adrenal hyperplasia 237751000
- Congenital adrenal hypoplasia, X-linked 237764004
- Congenital cataract with deafness and hypogonadism syndrome 722378009
- Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency 725462002
- Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006
- Deafness and hypogonadism syndrome 718714006
- Deficiency of leukotriene C4 synthase 717185008
- Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 783741006
- Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 783740007
- Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome 719451006
- Endocrine-cerebro-osteodysplasia syndrome 723309006
- Exercise-induced hyperinsulinism 715830008
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone 782917007
- Familial adrenocortical hypoplasia 37495007
- Familial glucocorticoid deficiency 765326001
- Familial hyperprolactinemia 763715007
- Familial hypoaldosteronism 715343000
- Familial isolated hypoparathyroidism 725036000
- Familial isolated pituitary adenoma 702375004
- Familial male-limited precocious puberty 725295005
- Familial non-autoimmune autosomal dominant hyperthyroidism 716743006
- Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome 716657000
- Familial thyroid dyshormonogenesis 718183003
- Frontonasal dysplasia with alopecia and genital anomaly syndrome 725029001
- Glucocorticoid deficiency with achalasia 45414006
- Growth delay due to insulin-like growth factor type 1 deficiency 724385009
- Hereditary adrenal unresponsiveness to corticotropin 71974009
- Hereditary glucocorticoid resistance 715402001
- Hereditary nephrogenic diabetes insipidus 61165007
- Hereditary vitamin D dependency syndrome 74818001
- Heterozygous methylenetetrahydrofolate reductase mutation 139821000119102
- Homozygous methylenetetrahydrofolate reductase mutation 139811000119109
- Hydrocephalus with obesity and hypogonadism syndrome 721231007
- Hypergonadotropic hypogonadism with cataract syndrome 721233005
- Hyperinsulinism and hyperammonemia syndrome 718106009
- Hyperinsulinism due to deficiency of glucokinase 717182006
- Hyperinsulinism due to HNF1A deficiency 721234004
- Hyperinsulinism due to HNF4A deficiency 717048002
- Hyperinsulinism due to insulin receptor deficiency 721235003
- Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency 721236002
- Hyperinsulinism due to uncoupling protein 2 deficiency 721834007
- Hyperparathyroidism-jaw tumor syndrome 702378002
- Hypogonadism with anosmia 93559003
- Hypogonadism with prune belly syndrome 236796004
- Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 237616002
- Hypogonadotropic hypogonadism retinitis pigmentosa syndrome 733113002
- Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome 721842008
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Hypomagnesemia with secondary hypocalcemia 711151004
- Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome 721846006
- Hypoparathyroidism, deafness, renal disease syndrome 724282009
- Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome 773673002
- Hypothyroidism due to mutation in transcription factor of pituitary development 718194004
- Inherited disorder of thyroid metabolism 36985004
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 764960005
- Intellectual disability, myopathy, short stature, endocrine defect syndrome 764959000
- Isolated follicle stimulating hormone deficiency 758664007
- Leprechaunism syndrome 111307005
- Leydig cell agenesis 56212008
- Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome 721977007
- Lymphedema hypoparathyroidism syndrome 721083007
- Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome 722459008
- Martsolf syndrome 722380003
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 237617006
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome 733092009
- Moderate steroid 21-hydroxylase deficiency 60045007
- Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome 724097003
- Multinodular goiter, cystic kidney, polydactyly syndrome 723409007
- Multiple endocrine neoplasia, type 1 30664006
- Multiple endocrine neoplasia, type 2 61808009
- Multiple endocrine neoplasia, type 3 61530001
- Nephropathy, deafness, hyperparathyroidism syndrome 724093004
- Obesity due to leptin receptor gene deficiency 785722006
- Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 699298009
- Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome 722206009
- Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome 722207000
- Partial androgen insensitivity syndrome 122811000119101
- Partial pancreatic agenesis 719044008
- Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome 724067006
- Primary hypergonadotropic hypogonadism and partial alopecia syndrome 719275009
- Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency 724275005
- Primary pigmented nodular adrenocortical disease 719274008
- Pseudohypoaldosteronism, type 1, dominant form 85880000
- Pseudohypoaldosteronism, type 1, recessive form 91180009
- Pseudoprimary hyperaldosteronism 707747007
- Pyridoxal 5-phosphate dependent epilepsy 724576005
- Pyridoxine-dependent epilepsy 734434007
- Renal hepatic pancreatic dysplasia 763891005
- Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome 724001005
- Retinohepatoendocrinologic syndrome 724000006
- RHYNS syndrome 723999009
- Scholte syndrome 722002002
- Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome 722114007
- SERKAL syndrome 723720008
- Severe steroid 21-hydroxylase deficiency 15991002
- Short stature due to growth hormone secretagogue receptor deficiency 766817004
- Short stature with delayed bone age due to thyroid hormone metabolism deficiency 763890006
- Short stature, pituitary and cerebellar defect and small sella turcica syndrome 721072003
- Shwachman syndrome 89454001
- Sotos' syndrome 75968004
- Spastic paraplegia with precocious puberty syndrome 732958004
- Stimmler syndrome 733072002
- Syndromic X-linked intellectual disability type 7 719160009
- Thymic, renal, anal, lung dysplasia syndrome 723555007
- Thyrocerebrorenal syndrome 733096007
- WNT4 Mullerian aplasia and ovarian dysfunction 699275001
- Wolfram-like syndrome 734022008
- X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome 724276006
- X-linked intellectual disability Cilliers type 719013004
- X-linked intellectual disability Van Esch type 718914002
- X-linked intellectual disability with acromegaly and hyperactivity syndrome 719826004
- X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome 765471005
- X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome 732246009
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