X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008
SNOMED CT code
| SNOMED code | 771148008 |
|---|---|
| name | X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) |
| synonyms |
|
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Entire eye proper 1290040004 |
| Associated morphology | Congenital smallness 41086002 |
| Occurrence | Congenital 255399007 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Eye structure 81745001 |
| Associated morphology | Developmental failure of fusion 371520008 |
| attributes - group4 | |
| Interprets | Height / growth measure 271603002 |
| Has interpretation | Below reference range 281300000 |
| attributes - group2 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Birth head circumference 169876006 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| 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 X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked recessive hereditary disease 1162976004 X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital anomaly of eye 19416009 Microphthalmos 61142002 Colobomatous microphthalmia 715771008 X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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