QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003
SNOMED CT code
| SNOMED code | 1220568003 |
|---|---|
| name | QRICH1-related intellectual disability, chondrodysplasia syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome (disorder) |
| synonyms |
|
| attributes - group3 | |
| Interprets | Body height 1153637007 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Bone structure 272673000 |
| Associated morphology | Dysplasia 25723000 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| 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 QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 Chondrodysplasia 205465004 QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003 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 QRICH1-related intellectual disability, chondrodysplasia syndrome 1220568003 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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