719394002: Microcephalus cleft palate syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly cleft palate syndrome

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

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

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephaly cleft palate syndrome

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3316161013 Microcephalus cleft palate syndrome en Synonym Active Case insensitive SNOMED CT core

3316162018 Microcephaly cleft palate syndrome en Synonym Active Case insensitive SNOMED CT core

3316193017 Halal syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316160014	Microcephalus cleft palate syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316161013	Microcephalus cleft palate syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316162018	Microcephaly cleft palate syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3316193017	Halal syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core