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719394002: Microcephalus cleft palate 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
3316160014 Microcephalus cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316161013 Microcephalus cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316162018 Microcephaly cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316193017 Halal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316194011 This syndrome is characterised by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goitre, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316195012 This syndrome is characterized by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3936011000052113 syndrom med mikrocefali och kluven gom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephalus cleft palate syndrome (disorder) Is a mikrocefali false Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a Cleft palate true Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Microcephalus cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Microcephalus cleft palate syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Finding site Brain structure false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
Microcephalus cleft palate syndrome (disorder) Finding site Face structure true Inferred relationship Some 3
Microcephalus cleft palate syndrome (disorder) Associated morphology medfödd utebliven fusion false Inferred relationship Some 5
Microcephalus cleft palate syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 5
Microcephalus cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 1
Microcephalus cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Microcephalus cleft palate syndrome (disorder) Finding site Palatal structure true Inferred relationship Some 1
Microcephalus cleft palate syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Microcephalus cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephalus cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microcephalus cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Finding site Brain structure false Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Finding site Bone structure of head false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Finding site Head structure true Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 4
Microcephalus cleft palate syndrome (disorder) Is a Congenital microcephaly (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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