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715981004: Autosomal recessive primary microcephaly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304306016 Autosomal recessive primary microcephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304307013 Autosomal recessive primary microcephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311024018 Microcephalia vera en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311025017 True microcephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401177016 Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401178014 Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterised by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3304306016 Autosomal recessive primary microcephaly (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304306016 Autosomal recessive primary microcephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304307013 Autosomal recessive primary microcephaly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3304307013 Autosomal recessive primary microcephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311024018 Microcephalia vera en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311024018 Microcephalia vera en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311025017 True microcephaly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3311025017 True microcephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304308015 Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development with features of reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. It is more common in specific populations, e.g. northern Pakistanis. Consanguinity appears to play a role in incidence. Patients have a reduction in head circumference at birth of at least 2 standard deviations below ethnically matched, age- and sex-related mean values. Caused by mutations in MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, STIL, CEP63, CEP135 , CASC5 and PHC1. These mutations appear to lead to reduced generation of cerebral cortical neurons during embryonic neurogenesis. Inheritance is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401177016 Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401178014 Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterised by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3381791001000116 Mikrozephalie, primäre, autosomal-rezessive de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
872831000172118 MCPH - mutosomal recessive primary microcephaly fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997601000172110 microcéphalie primaire autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
872831000172118 MCPH - mutosomal recessive primary microcephaly fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
997601000172110 microcéphalie primaire autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381791001000116 Mikrozephalie, primäre, autosomal-rezessive 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
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Is a microcéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Interprets Birth head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Is a Congenital microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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