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718576001: Hydrocephalus with cleft palate and joint contracture 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
3312818014 Hydrocephalus with cleft palate and joint contracture syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312819018 Hydrocephalus with cleft palate and joint contracture syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3312820012 Aase Smith type 1 syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312837017 Aase Smith I syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3312822016 A very rare genetic disorder with characteristics of the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate and severe joint contractures. Less than 20 cases have been reported in the literature. The fingers are thin with absent knuckles and reduced creases over the joints and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot. There are currently no human genes associated with this disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 7
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) Inherited arthrogryposis true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) structure d'un membre true Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Contracture (morphologic abnormality) true Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 3
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 6
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Congenital malrotation (morphologic abnormality) true Inferred relationship Some 5
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 6
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure true Inferred relationship Some 5
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Fourth ventricle structure true Inferred relationship Some 7
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 7
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Cystic dilatation true Inferred relationship Some 7
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) interprète (attribut) Range of joint movement true Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Structure of joint region true Inferred relationship Some 2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) a pour interprétation (attribut) Decreased true Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) true Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) anomalie congénitale des os du crâne et du visage true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) Extrapyramidal disease true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) syndrome de Dandy-Walker true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) fente palatine true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) Arthrogryposis false Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) structure d'un membre false Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 11
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 13
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 13
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 13
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 10
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure true Inferred relationship Some 8
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 12
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Contracture (morphologic abnormality) false Inferred relationship Some 11
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) structure articulaire false Inferred relationship Some 11
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 12
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 12
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Cerebellar vermis structure false Inferred relationship Some 14
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Aplasia false Inferred relationship Some 9
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 14
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Lateral aperture of fourth ventricle false Inferred relationship Some 14
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Foramen of Magendie false Inferred relationship Some 14
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Congenital cavitation (morphologic abnormality) false Inferred relationship Some 15
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Infratentorial brain structure false Inferred relationship Some 15
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hydrocephalus with cleft palate and joint contracture syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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