Stimmler syndrome 733072002
SNOMED CT code
| SNOMED code | 733072002 |
|---|---|
| name | Stimmler syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
| synonyms |
|
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Enamel structure 76993005 |
| Associated morphology | Hypoplasia 55199003 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Congenital smallness 41086002 |
| Finding site | Head structure 69536005 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Endocrine structure 113331007 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| Occurrence | Congenital 255399007 |
| attributes - group5 | |
| Interprets | Height / growth measure 271603002 |
| Has interpretation | Below reference range 281300000 |
| attributes - group6 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Birth head circumference 169876006 |
| attributes - group7 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group8 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 Stimmler syndrome 733072002 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Stimmler syndrome 733072002 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Stimmler syndrome 733072002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of organic acid metabolism 116021002 Disorder of amino acid metabolism 44779003 Disorder of amino acid and organic acid metabolism 237911005 Stimmler syndrome 733072002 SNOMED CT Concept 138875005 Clinical finding 404684003 Digestive system finding 386617003 Disorder of digestive system 53619000 Disorder of digestive organ 76712006 Tooth disorder 234947003 Disorder of hard tissues of teeth 46557008 Enamel hypoplasia 26597004 Stimmler syndrome 733072002 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 Stimmler syndrome 733072002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Stimmler syndrome 733072002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of endocrine system 362969004 Diabetes mellitus 73211009 Stimmler syndrome 733072002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Amelogenesis imperfecta 78494001 Stimmler syndrome 733072002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Stimmler syndrome 733072002 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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