Fryns macrocephaly 716108004
SNOMED CT code
SNOMED code | 716108004 |
---|---|
name | Fryns macrocephaly |
status | active |
date introduced | 2016-07-31 |
fully specified name(s) | Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) |
synonyms |
|
attributes - group3 | |
Finding site | Face structure 89545001 |
Pathological process | Pathological developmental process 308490002 |
Occurrence | Congenital 255399007 |
Associated morphology | Morphologically abnormal structure 49755003 |
attributes - group4 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Enlargement 442021009 |
Finding site | Head structure 69536005 |
Occurrence | Congenital 255399007 |
attributes - group1 | |
Associated morphology | Degenerative abnormality 107669003 |
Finding site | Spinal cord structure 2748008 |
attributes - group5 | |
Has interpretation | Above reference range 281302008 |
Interprets | Head circumference 363812007 |
attributes - group6 | |
Clinical course | Progressive 255314001 |
attributes - group9 | |
Interprets | Movement 255324009 |
attributes - group2 | |
Finding site | Right lower extremity structure 62175007 |
attributes - group8 | |
Finding site | Left lower extremity structure 32153003 |
attributes - group7 | |
Interprets | Movement observable 363847004 |
Has interpretation | Absent 2667000 |
parents |
|
hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Macrocephaly 1145403003 Congenital macrocephaly 1145402008 Fryns macrocephaly 716108004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Autosomal recessive hereditary spastic paraplegia 1187279003 Fryns macrocephaly 716108004 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Fryns macrocephaly 716108004 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 Fryns macrocephaly 716108004 |
ancestors | sorted most to least specific
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cpt crosswalks |
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