Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006
SNOMED CT code
| SNOMED code | 1222658006 |
|---|---|
| name | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder) |
| synonyms |
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| attributes - group4 | |
| Finding site | Central nervous system structure 21483005 |
| attributes - group3 | |
| Interprets | Head circumference 363812007 |
| Has interpretation | Above reference range 281302008 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group1 | |
| Finding site | Hair structure 386045008 |
| Associated morphology | Absence 418560003 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| parents |
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| 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 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Macrocephaly 1145403003 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental delay 248290002 Global developmental delay 224958001 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006 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 Disorder of the urea cycle metabolism 36444000 Disorder of ornithine metabolism 237928008 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Skin finding 106076001 Hair finding 247522004 Disorder of hair 279425004 Alopecia 56317004 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006 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 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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