DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001
SNOMED CT code
| SNOMED code | 1236845001 |
|---|---|
| name | DONSON-related microcephaly, short stature, limb abnormalities spectrum |
| status | active |
| date introduced | 2022-08-31 |
| fully specified name(s) | DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) |
| synonyms |
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| attributes - group3 | |
| Interprets | Birth head circumference 169876006 |
| 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 | Head structure 69536005 |
| Associated morphology | Congenital smallness 41086002 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group4 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Disorder of skeletal system 88230002 Skeletal dysplasia 105986008 DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Primordial dwarfism 237837007 DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001 SNOMED CT Concept 138875005 Clinical finding 404684003 Musculoskeletal finding 106028002 Disorder of musculoskeletal system 928000 Hereditary disorder of musculoskeletal system 363212003 DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Disorder of bone development 371521007 Congenital anomaly of skeletal bone 8447006 DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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