FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

78693004: Congenital hypoplasia of part of brain (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
130581013 Congenital hypoplasia of part of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819661012 Congenital hypoplasia of part of brain (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
130581013 Congenital hypoplasia of part of brain en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
130581013 Congenital hypoplasia of part of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819661012 Congenital hypoplasia of part of brain (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
819661012 Congenital hypoplasia of part of brain (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5880211000241114 hypoplasie congénitale d'une partie de l'encéphale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5880211000241114 hypoplasie congénitale d'une partie de l'encéphale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


62 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hypoplasia of part of brain Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of part of brain Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of brain Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of brain Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of part of brain Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of brain Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of brain Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of brain Finding site Brain part false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of brain Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of part of brain Finding site Brain part true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of brain Associated morphology Congenital hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of brain Is a Congenital hypoplasia of brain true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of part of brain Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of part of brain Is a Congenital anomaly of nervous system of head/neck false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of part of brain Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of part of brain Finding site Brain part false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital hypoplasia of part of brain Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of brain Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hypoplasia of part of brain Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital cerebellar hypoplasia Is a True Congenital hypoplasia of part of brain Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of cerebrum Is a True Congenital hypoplasia of part of brain Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia Is a False Congenital hypoplasia of part of brain Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of corpus callosum Is a False Congenital hypoplasia of part of brain Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of brain gyri Is a True Congenital hypoplasia of part of brain Inferred relationship Existential restriction modifier (core metadata concept)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Is a False Congenital hypoplasia of part of brain Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start