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1197215004: microforme holoprosencefalie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Microform holoprosencephaly

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence\Microform holoprosencephaly
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Microform holoprosencephaly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Microform holoprosencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence\Microform holoprosencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Microform holoprosencephaly

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microform holoprosencephaly	Is a	Holoprosencephaly sequence	true	Inferred relationship	Some
Microform holoprosencephaly	Occurrence	Congenital	true	Inferred relationship	Some	1
Microform holoprosencephaly	Finding site	Head structure	true	Inferred relationship	Some	1
Microform holoprosencephaly	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Microform holoprosencephaly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4695462014	Holoprosencephaly minor form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695463016	HPE (holoprosencephaly) minor form	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4695464010	Microform holoprosencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695465011	Holoprosencephaly-like	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695466012	Microform holoprosencephaly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13605191000146116	lichte vorm van holoprosencefalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13605201000146119	microforme holoprosencefalie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13605211000146117	microforme holoprosencefalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4695467015	A benign form of holoprosencephaly with characteristics of midline defects without the typical holoprosencephaly defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core