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722036008: Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus 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
3330269015 Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330270019 Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330271015 MPPH syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330272010 MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330273017 This syndrome has characteristics of megalencephaly, polymicrogyria and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
14001981000172117 syndrome MPPH (mégalencéphalie, polymicrogyrie, polydactylie post-axiale, hydrocéphalie) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
14001991000172119 syndrome de mégalencéphalie, polymicrogyrie, polydactylie post-axiale et hydrocéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4065711000172114 syndroom van macrencefalie, polymicrogyrie, postaxiale polydactylie en hydrocephalus nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4065721000172116 MPPH-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
4065731000172118 syndroom van megalencefalie, polymicrogyrie, postaxiale polydactylie en hydrocefalie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Is a Microgyria true Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Is a Macroencephaly true Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Is a Congenital hydrocephalus true Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology Congenital enlargement false Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Finding site Entire brain false Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Finding site Structure of gyrus of brain (body structure) false Inferred relationship Some 5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Finding site Structure of gyrus of brain (body structure) true Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Finding site Entire brain false Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology Congenital enlargement false Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Finding site Brain cerebrospinal fluid pathway true Inferred relationship Some 1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology Dilatation true Inferred relationship Some 1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Finding site Cerebrum true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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