71779008: X-gebonden hydrocefalie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\X-linked hydrocephalus syndrome

\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked hydrocephalus syndrome

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\X-linked hydrocephalus syndrome

\Developmental disorder\Developmental hereditary disorder\X-linked hydrocephalus syndrome
\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\X-linked hydrocephalus syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

119240018 X-linked hydrocephalus syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

119241019 Bickers-Adams syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

119242014 X-linked hydrocephalus en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

811982018 X-linked hydrocephalus syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

6170381000146112 X-gebonden hydrocephalus nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6170391000146114 X-gebonden hydrocefalie (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6678701000146118 syndroom van Bickers-Adams nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6678711000146116 X-gebonden HSAS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7014881000146110 X-gebonden hydrocefalie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13129521000146117 hydrocephalus met vernauwing van aqueduct van Sylvius nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked hydrocephalus syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
X-linked hydrocephalus syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	true	Inferred relationship	Some
X-linked hydrocephalus syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked hydrocephalus syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
X-linked hydrocephalus syndrome	Occurrence	Congenital	false	Inferred relationship	Some
X-linked hydrocephalus syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
X-linked hydrocephalus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked hydrocephalus syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
X-linked hydrocephalus syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
X-linked hydrocephalus syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked hydrocephalus syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked hydrocephalus syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets