771074000: Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)

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

\Finding of general physiological development\Disorder of stature\Short stature disorder\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)

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

\Finding of head circumference\Microcephaly (finding)\Microcephaly, short stature, intellectual disability, facial dysmorphism 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\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)

\Finding of head circumference\Microcephaly (finding)\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephaly, short stature, intellectual disability, facial dysmorphism 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\Microcephaly, short stature, intellectual disability, facial dysmorphism 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\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Microcephaly, short stature, intellectual disability, facial dysmorphism 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\Microcephaly, short stature, intellectual disability, facial dysmorphism 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\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephaly, short stature, intellectual disability, facial dysmorphism 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\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3704197016 Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704198014 Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704199018 A rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3704200015 A rare genetic malformation syndrome with short stature characterised by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalised oedema, myopia, strabismus, hypothyroidism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4205391000052115 syndrom med mikrocefali, kortvuxenhet, intellektuell funktionsnedsättning och ansiktsmissbildning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	mikrocefali	false	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	1
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	3
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	1
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Microcephaly (finding)	true	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3

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
3704197016	Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704198014	Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704199018	A rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3704200015	A rare genetic malformation syndrome with short stature characterised by postnatal microcephaly, failure to thrive, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalised oedema, myopia, strabismus, hypothyroidism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4205391000052115	syndrom med mikrocefali, kortvuxenhet, intellektuell funktionsnedsättning och ansiktsmissbildning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)