Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006
SNOMED CT code
SNOMED code | 715429006 |
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name | Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome |
status | active |
date introduced | 2016-07-31 |
fully specified name(s) | Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) |
synonyms | Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome |
attributes - group2 | |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
Finding site | Skeletal muscle structure 127954009 |
Associated morphology | Dystrophy 4720007 |
attributes - group4 | |
Occurrence | Infancy 3658006 |
Associated morphology | Opacity 128305008 |
Finding site | Lens clear 78076003 |
attributes - group3 | |
Clinical course | Progressive 255314001 |
attributes - group1 | |
Occurrence | Congenital 255399007 |
Finding site | Gonadal endocrine structure 304041004 |
parents |
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hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Muscle finding 106030000 Disorder of muscle 129565002 Disorder of skeletal muscle 75047002 Congenital anomaly of skeletal muscle 89886004 Congenital hereditary muscular dystrophy 111501005 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Chronic disease 27624003 Chronic disease of genitourinary system 128290005 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Hereditary disorder of endocrine system 363104002 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Hereditary disorder by system 363137000 Reproductive system hereditary disorder 363290007 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Degenerative disorder 362975008 Degenerative disorder of eye 62585004 Cataract 193570009 Infantile and/or juvenile cataract 342291000119102 Infantile cataract 399120006 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Disorder of endocrine gonad 127345001 Hypogonadism 48130008 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome 715429006 |
ancestors | sorted most to least specific
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cpt crosswalks |
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