65094009: Multiple malformation syndrome with facial defects as major feature (disorder)

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

\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

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature

\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

108174011 Multiple malformation syndrome with facial defects as major feature en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

804559017 Multiple malformation syndrome with facial defects as major feature (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2513511000052118 multipelt missbildningssyndrom med ansiktsdefekter som mest väsentliga särdrag 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
Multiple malformation syndrome with facial defects as major feature	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Occurrence	Congenital	false	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple malformation syndrome with facial defects as major feature	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Multiple malformation syndrome with facial defects as major feature	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Multiple malformation syndrome with facial defects as major feature	Finding site	Face structure	true	Inferred relationship	Some	1
Multiple malformation syndrome with facial defects as major feature	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Multiple malformation syndrome with facial defects as major feature	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Tall stature, intellectual disability, renal anomalies syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Fried syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Kosaki overgrowth syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
X-linked intellectual disability with marfanoid habitus (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Metopic ridging, ptosis, facial dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Gabriele-de Vries syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Mucopolysaccharidosis-like plus disease	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Witteveen Kolk syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some
Basel Vanagaite Smirin Yosef syndrome (disorder)	Is a	True	Multiple malformation syndrome with facial defects as major feature	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
108174011	Multiple malformation syndrome with facial defects as major feature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
804559017	Multiple malformation syndrome with facial defects as major feature (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2513511000052118	multipelt missbildningssyndrom med ansiktsdefekter som mest väsentliga särdrag	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)