Microcephalus with albinism and digital anomaly syndrome 719377004
SNOMED CT code
SNOMED code | 719377004 |
---|---|
name | Microcephalus with albinism and digital anomaly syndrome |
status | active |
date introduced | 2017-01-31 |
fully specified name(s) | Microcephalus with albinism and digital anomaly syndrome (disorder) |
synonyms |
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attributes - group3 | |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
Finding site | Digit structure 82680008 |
Associated morphology | Morphologically abnormal structure 49755003 |
attributes - group4 | |
Finding site | Skin structure 39937001 |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Decreased melanin pigmentation 37257004 |
Occurrence | Congenital 255399007 |
attributes - group2 | |
Occurrence | Congenital 255399007 |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Congenital smallness 41086002 |
Finding site | Head structure 69536005 |
attributes - group5 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Decreased melanin pigmentation 37257004 |
Occurrence | Congenital 255399007 |
Finding site | Eye structure 81745001 |
attributes - group1 | |
Occurrence | Congenital 255399007 |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Morphologically abnormal structure 49755003 |
Finding site | Jaw region structure 661005 |
attributes - group6 | |
Associated morphology | Morphologically abnormal structure 49755003 |
Finding site | Face structure 89545001 |
Occurrence | Congenital 255399007 |
Pathological process | Pathological developmental process 308490002 |
attributes - group7 | |
Has interpretation | Below reference range 281300000 |
Interprets | Birth head circumference 169876006 |
parents |
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hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Microcephalus with albinism and digital anomaly syndrome 719377004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Congenital anomaly of limb 60475009 Multiple malformation syndrome with facial-limb defects as major feature 23359005 Microcephalus with albinism and digital anomaly syndrome 719377004 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Microcephalus with albinism and digital anomaly syndrome 719377004 SNOMED CT Concept 138875005 Clinical finding 404684003 Integumentary system finding 106077005 Disorder of integument 128598002 Hereditary disorder of the integument 363185004 Oculocutaneous albinism 63844009 Microcephalus with albinism and digital anomaly syndrome 719377004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of jaw 37156001 Congenital anomaly of jaw 95473006 Microcephalus with albinism and digital anomaly syndrome 719377004 |
ancestors | sorted most to least specific
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cpt crosswalks |
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