Congenital pontocerebellar hypoplasia type 7 718605009

SNOMED CT code

SNOMED code

718605009

name

Congenital pontocerebellar hypoplasia type 7

status

active

date introduced

2017-01-31

fully specified name(s)

Congenital pontocerebellar hypoplasia type 7 (disorder)

synonyms

Congenital pontocerebellar hypoplasia type 7
PCH7 - pontocerebellar hypoplasia type 7
Pontocerebellar hypoplasia type 7

attributes - group1

Associated morphology

Hypoplasia 55199003

Occurrence

Congenital 255399007

Finding site

Pontine structure 49557009

Pathological process

Pathological developmental process 308490002

attributes - group2

Pathological process

Pathological developmental process 308490002

Associated morphology

Hypoplasia 55199003

Occurrence

Congenital 255399007

Finding site

Cerebellar structure 113305005

parents

Developmental hereditary disorder 363070008
Hereditary disorder of nervous system 363235000
Congenital pontocerebellar hypoplasia 45163000
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Congenital pontocerebellar hypoplasia type 7 718605009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of nervous system 118940003
Hereditary disorder of nervous system 363235000
Congenital pontocerebellar hypoplasia type 7 718605009

SNOMED CT Concept 138875005
Clinical finding 404684003
Central nervous system finding 246556002
Disorder of the central nervous system 23853001
Congenital anomaly of central nervous system 128124001
Congenital anomaly of brain 57148006
Dysgenesis of the brainstem 253180007
Congenital pontocerebellar hypoplasia 45163000
Congenital pontocerebellar hypoplasia type 7 718605009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Congenital pontocerebellar hypoplasia type 7 718605009

ancestors

sorted most to least specific

Developmental hereditary disorder 363070008
Hereditary disorder of nervous system 363235000
Congenital pontocerebellar hypoplasia 45163000
Autosomal recessive hereditary disorder 85995004
Congenital cerebellar hypoplasia 16026008
Autosomal hereditary disorder 1899006
Hereditary disorder by system 363137000
Dysgenesis of the brainstem 253180007
Hereditary disease 32895009
Dysgenesis of the cerebellum 253171007
Congenital hypoplasia of part of brain 78693004
Disorder of brain stem 95640005
Genetic disease 782964007
Cerebellar disorder 223176004
Congenital hypoplasia of brain 127551000119100
Congenital anomaly of brain 57148006
Disorder of brain 81308009
Congenital anomaly of central nervous system 128124001
Congenital anomaly of head 87290003
Disorder of head 118934005
Disorder of the central nervous system 23853001
Finding of brain 299718000
Congenital anomaly of nervous system 88425004
Disorder of nervous system 118940003
Head finding 406122000
Central nervous system finding 246556002
Congenital malformation 276654001
Disorder of body system 362965005
Finding of head and neck region 118254002
Developmental disorder 5294002
Congenital disease 66091009
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Developmental disorder 5294002

Developmental hereditary disorder 363070008

Congenital pontocerebellar hypoplasia type 7 718605009

SNOMED CT code