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717822006: Goldberg Shprintzen megacolon syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3323624014 Goldberg Shprintzen megacolon syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3323626011 Goldberg Shprintzen megacolon syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3323627019 Megacolon microcephaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Goldberg Shprintzen megacolon syndrome Is a Microcephalus false Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a Cleft palate true Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a Mental retardation false Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a Hirschsprung's disease true Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Finding site Parasympathetic nervous system structure false Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Finding site Autonomic nerve structure true Inferred relationship Existential restriction modifier 6
Goldberg Shprintzen megacolon syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 8
Goldberg Shprintzen megacolon syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 9
Goldberg Shprintzen megacolon syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 10
Goldberg Shprintzen megacolon syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 11
Goldberg Shprintzen megacolon syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 9
Goldberg Shprintzen megacolon syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 9
Goldberg Shprintzen megacolon syndrome Associated morphology Congenital hypertrophy false Inferred relationship Existential restriction modifier 10
Goldberg Shprintzen megacolon syndrome Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier 11
Goldberg Shprintzen megacolon syndrome Finding site Palatal structure false Inferred relationship Existential restriction modifier 11
Goldberg Shprintzen megacolon syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier 8
Goldberg Shprintzen megacolon syndrome Is a Inherited autonomic nervous system disorder true Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier 7
Goldberg Shprintzen megacolon syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 7
Goldberg Shprintzen megacolon syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 7
Goldberg Shprintzen megacolon syndrome Finding site Large intestine part false Inferred relationship Existential restriction modifier 8
Goldberg Shprintzen megacolon syndrome Finding site Large intestine part false Inferred relationship Existential restriction modifier 10
Goldberg Shprintzen megacolon syndrome Associated morphology Developmental failure of fusion false Inferred relationship Existential restriction modifier 1
Goldberg Shprintzen megacolon syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Goldberg Shprintzen megacolon syndrome Finding site Palatal structure false Inferred relationship Existential restriction modifier 1
Goldberg Shprintzen megacolon syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Goldberg Shprintzen megacolon syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Goldberg Shprintzen megacolon syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 5
Goldberg Shprintzen megacolon syndrome Finding site Large intestine part true Inferred relationship Existential restriction modifier 5
Goldberg Shprintzen megacolon syndrome Finding site Large intestine part true Inferred relationship Existential restriction modifier 4
Goldberg Shprintzen megacolon syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 3
Goldberg Shprintzen megacolon syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 5
Goldberg Shprintzen megacolon syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier 4
Goldberg Shprintzen megacolon syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Goldberg Shprintzen megacolon syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Goldberg Shprintzen megacolon syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Goldberg Shprintzen megacolon syndrome Associated morphology Congenital smallness true Inferred relationship Existential restriction modifier 3
Goldberg Shprintzen megacolon syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Goldberg Shprintzen megacolon syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Goldberg Shprintzen megacolon syndrome Finding site Palatal structure true Inferred relationship Existential restriction modifier 2
Goldberg Shprintzen megacolon syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 1
Goldberg Shprintzen megacolon syndrome Associated morphology Developmental failure of fusion true Inferred relationship Existential restriction modifier 2
Goldberg Shprintzen megacolon syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Goldberg Shprintzen megacolon syndrome Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier 5
Goldberg Shprintzen megacolon syndrome Associated morphology Dilatation true Inferred relationship Existential restriction modifier 4
Goldberg Shprintzen megacolon syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 6
Goldberg Shprintzen megacolon syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 6
Goldberg Shprintzen megacolon syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 6
Goldberg Shprintzen megacolon syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Associated morphology Developmental failure of fusion false Inferred relationship Existential restriction modifier 7
Goldberg Shprintzen megacolon syndrome Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 7
Goldberg Shprintzen megacolon syndrome Finding site Bone structure of head false Inferred relationship Existential restriction modifier 7
Goldberg Shprintzen megacolon syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Finding site Structure of peripheral part of autonomic nervous system true Inferred relationship Existential restriction modifier 8
Goldberg Shprintzen megacolon syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 8
Goldberg Shprintzen megacolon syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 8
Goldberg Shprintzen megacolon syndrome Is a Congenital microcephaly true Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Finding site Head structure true Inferred relationship Existential restriction modifier 3
Goldberg Shprintzen megacolon syndrome Interprets Birth head circumference true Inferred relationship Existential restriction modifier 7
Goldberg Shprintzen megacolon syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 7
Goldberg Shprintzen megacolon syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 9
Goldberg Shprintzen megacolon syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 9
Goldberg Shprintzen megacolon syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 10
Goldberg Shprintzen megacolon syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 10
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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