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717822006: syndroom van megacolon en microcefalie (aandoening)


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
3323624014 Goldberg Shprintzen megacolon syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323626011 Goldberg Shprintzen megacolon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323627019 Megacolon microcephaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6791781000146119 syndroom van megacolon en microcefalie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6791791000146117 syndroom van megacolon en microcefalie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6839601000146113 megacolonsyndroom van Goldberg-Shprintzen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3323628012 A multiple malformation syndrome with characteristics of Hirschprung megacolon and microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. Inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1. 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
Goldberg Shprintzen megacolon syndrome (disorder) Is a microcefalie false Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a Cleft palate true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a mentale retardatie false Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a Congenital aganglionic megacolon true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Parasympathetic nervous system structure false Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Autonomic nerve structure true Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital false Inferred relationship Some 10
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital false Inferred relationship Some 11
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 9
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Face structure false Inferred relationship Some 9
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology congenitale hypertrofie (afwijkende morfologie) false Inferred relationship Some 10
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Some 11
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 11
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology congenitale dilatatie (afwijkende morfologie) false Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) Is a Inherited autonomic nervous system disorder (disorder) true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology congenitale kleinheid false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Brain structure false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Large intestine part false Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Large intestine part false Inferred relationship Some 10
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Palatal structure false Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Is a Intellectual disability true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Large intestine part true Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Large intestine part true Inferred relationship Some 4
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Brain structure false Inferred relationship Some 3
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology congenitale dilatatie (afwijkende morfologie) false Inferred relationship Some 4
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology congenitale kleinheid false Inferred relationship Some 3
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Palatal structure true Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Hypertrophy (morphologic abnormality) true Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 4
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Bone structure of head false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Head structure true Inferred relationship Some 3
Goldberg Shprintzen megacolon syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 9
Goldberg Shprintzen megacolon syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 9
Goldberg Shprintzen megacolon syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 10
Goldberg Shprintzen megacolon syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 10
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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