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717859007: Hydrocephalus, cardiac malformation, dense bone syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324363016 Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324364010 Hydrocephalus, cardiac malformation, dense bone syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3324365011 Beemer Ertbruggen syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324366012 Beemer lethal malformation syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324367015 A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1013461000241115 syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a Congenital hydrocephalus true Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 3
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Finding site Face structure false Inferred relationship Some 3
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 4
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 4
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Some 5
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Finding site Heart structure false Inferred relationship Some 5
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 3
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 3
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Finding site Heart structure true Inferred relationship Some 2
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 3
Hydrocephalus, cardiac malformation, dense bone syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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