719138006: X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Elbow joint deformity\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Angulation of arm\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Deformity (finding)\Congenital deformity\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Deformity (finding)\Joint deformity\Elbow joint deformity\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)

\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Elbow joint deformity\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Angulation of arm\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Elbow joint deformity\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Angulation of arm\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of elbow region\Finding of elbow joint\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of elbow region\Finding of elbow joint\Elbow joint deformity\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of elbow region\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)

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

\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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Musculoskeletal finding\Joint finding\Finding of elbow joint\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Musculoskeletal finding\Joint finding\Finding of elbow joint\Elbow joint deformity\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Musculoskeletal finding\Joint finding\Joint deformity\Elbow joint deformity\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of joint region\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of elbow (disorder)\Arthropathy of elbow (disorder)\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\X-linked intellectual disability with cubitus valgus and 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability with cubitus valgus and 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and 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\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital cubitus valgus\X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\X-linked intellectual disability with cubitus valgus and dysmorphism 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

3315139012 X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3315140014 X-linked intellectual disability with cubitus valgus and dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3315141013 This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3777421017 This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple naevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3899341000052117 syndrom med X-bunden intellektuell funktionsnedsättning, cubitus valgus och dysmorfism sv Synonym (core metadata concept) Active Only initial character 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
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	Congenital cubitus valgus	true	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	Congenital malrotation of limb	false	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	Congenital anomaly of joint	false	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Associated morphology	kongenital valgusdeformitet	false	Inferred relationship	Some	2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Finding site	Elbow joint structure	false	Inferred relationship	Some	2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Finding site	Elbow joint structure	true	Inferred relationship	Some	1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Associated morphology	Valgus deformity	true	Inferred relationship	Some	1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3315139012	X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315140014	X-linked intellectual disability with cubitus valgus and dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3315141013	This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777421017	This syndrome has characteristics of moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple naevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3899341000052117	syndrom med X-bunden intellektuell funktionsnedsättning, cubitus valgus och dysmorfism	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)