1197215004: Microform holoprosencephaly (disorder)

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

\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence\A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\Holoprosencephaly sequence\A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.

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

Descriptions:

Id Description Lang Type Status Case? Module

5399714010 A benign form of holoprosencephaly characterized by midline defects without the typical HPE 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

5399715011 A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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

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

7730161000241113 HPE (holoprosencéphalie) microforme fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7730171000241117 holoprosencéphalie microforme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3387561001000113 Holoprosenzephalie, mikroforme de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.	Is a	Holoprosencephaly sequence	true	Inferred relationship	Some
A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.	Occurrence	Congenital	true	Inferred relationship	Some	1
A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.	Finding site	Head structure	true	Inferred relationship	Some	1
A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5399714010	A benign form of holoprosencephaly characterized by midline defects without the typical HPE 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
5399715011	A benign form of holoprosencephaly characterised by midline defects without the typical HPE 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
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
7730161000241113	HPE (holoprosencéphalie) microforme	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7730171000241117	holoprosencéphalie microforme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387561001000113	Holoprosenzephalie, mikroforme	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module