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717822006: Goldberg Shprintzen megacolon 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
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
5401612015 A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401613013 A rare multiple congenital anomalies/dysmorphic syndrome characterised by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalised polymicrogyria, or hypoplastic corpus callosum). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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
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
5401612015 A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401613013 A rare multiple congenital anomalies/dysmorphic syndrome characterised by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalised polymicrogyria, or hypoplastic corpus callosum). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428111001000115 Goldberg-Shprintzen-Megakolon-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873811000172115 syndrome de Goldberg-Shprintzen avec mégacôlon fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980721000172111 GOSHS - Goldberg-Shprintzen syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
873811000172115 syndrome de Goldberg-Shprintzen avec mégacôlon fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980721000172111 GOSHS - Goldberg-Shprintzen syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428111001000115 Goldberg-Shprintzen-Megakolon-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Goldberg Shprintzen megacolon syndrome (disorder) Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a Cleft palate true Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a Congenital aganglionic megacolon (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Parasympathetic nervous system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Autonomic nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 8
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 10
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 11
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 9
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology hypertrophie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 10
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 11
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 11
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 8
Goldberg Shprintzen megacolon syndrome (disorder) Is a Inherited autonomic nervous system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 7
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Large intestine part false Inferred relationship Existential restriction modifier (core metadata concept) 8
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Large intestine part false Inferred relationship Existential restriction modifier (core metadata concept) 10
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldberg Shprintzen megacolon syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Large intestine part true Inferred relationship Existential restriction modifier (core metadata concept) 5
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Large intestine part true Inferred relationship Existential restriction modifier (core metadata concept) 4
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 4
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 5
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 4
Goldberg Shprintzen megacolon syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 6
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Goldberg Shprintzen megacolon syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 7
Goldberg Shprintzen megacolon syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 8
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 8
Goldberg Shprintzen megacolon syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Goldberg Shprintzen megacolon syndrome (disorder) Interprets Birth head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 7
Goldberg Shprintzen megacolon syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 7
Goldberg Shprintzen megacolon syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Goldberg Shprintzen megacolon syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Goldberg Shprintzen megacolon syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 10
Goldberg Shprintzen megacolon syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 10
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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