719394002: Microcephalus cleft palate syndrome (disorder)

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

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)

\Finding of head region\Orofacial cleft (disorder)\Cleft palate\Microcephalus cleft palate syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus cleft palate syndrome (disorder)
\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate syndrome (disorder)

\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate syndrome (disorder)
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus cleft palate syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Microcephalus cleft palate syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus cleft palate syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus cleft palate syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus cleft palate syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Microcephalus cleft palate syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus cleft palate syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalus cleft palate syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Microcephalus cleft palate syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus cleft palate syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalus cleft palate syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalus cleft palate syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus cleft palate syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Microcephalus cleft palate syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephalus cleft palate syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Microcephalus cleft palate 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

3316160014 Microcephalus cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316161013 Microcephalus cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316162018 Microcephaly cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3316193017 Halal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3316194011 This syndrome is characterised by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goitre, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3316195012 This syndrome is characterized by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5119851000172116 syndroom van microcefalie, gespleten gehemelte en abnormale retinale pigmentatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5119861000172119 syndroom van Halal nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5119871000172111 syndroom van microcefalie, palatoschisis en abnormale retinale pigmentatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalus cleft palate syndrome (disorder)	Is a	microcéphalie	false	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Is a	Cleft palate	true	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Microcephalus cleft palate syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Microcephalus cleft palate syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Microcephalus cleft palate syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	4
Microcephalus cleft palate syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	4
Microcephalus cleft palate syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Microcephalus cleft palate syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Microcephalus cleft palate syndrome (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	5
Microcephalus cleft palate syndrome (disorder)	Finding site	Palatal structure	false	Inferred relationship	Some	5
Microcephalus cleft palate syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
Microcephalus cleft palate syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Microcephalus cleft palate syndrome (disorder)	Finding site	Palatal structure	true	Inferred relationship	Some	1
Microcephalus cleft palate syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Microcephalus cleft palate syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microcephalus cleft palate syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Microcephalus cleft palate syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Microcephalus cleft palate syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephalus cleft palate syndrome (disorder)	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Microcephalus cleft palate syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
Microcephalus cleft palate syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Microcephalus cleft palate syndrome (disorder)	Finding site	Bone structure of head	false	Inferred relationship	Some	4
Microcephalus cleft palate syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	4
Microcephalus cleft palate syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Microcephalus cleft palate syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	2
Microcephalus cleft palate syndrome (disorder)	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Microcephalus cleft palate syndrome (disorder)	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316160014	Microcephalus cleft palate syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316161013	Microcephalus cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316162018	Microcephaly cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316193017	Halal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316194011	This syndrome is characterised by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goitre, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316195012	This syndrome is characterized by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5119851000172116	syndroom van microcefalie, gespleten gehemelte en abnormale retinale pigmentatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5119861000172119	syndroom van Halal	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5119871000172111	syndroom van microcefalie, palatoschisis en abnormale retinale pigmentatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)