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77701002: Multiple malformation syndrome, moderate short stature, facial (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome, moderate short stature, facial

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

128959018 Multiple malformation syndrome, moderate short stature, facial en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

128961010 Multiple malformation syndrome, moderate short stature, facial with or without genital features en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

818561014 Multiple malformation syndrome, moderate short stature, facial (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2009701000005117 Multipelt misdannelsessyndrom med moderat kort statur og involvering af ansigtet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple malformation syndrome, moderate short stature, facial	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Multiple malformation syndrome, moderate short stature, facial	Occurrence	Congenital	false	Inferred relationship	Some
Multiple malformation syndrome, moderate short stature, facial	Associated morphology	Kongenit malformation	false	Inferred relationship	Some
Multiple malformation syndrome, moderate short stature, facial	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple malformation syndrome, moderate short stature, facial	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Multiple malformation syndrome, moderate short stature, facial	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Multiple malformation syndrome, moderate short stature, facial	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachycephalic dwarfism	Is a	False	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
Aarskog syndrome	Is a	True	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
Dolichocephalic dwarfism	Is a	True	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
Smith-Lemli-Opitz syndrome	Is a	True	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
Williams syndrome	Is a	False	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.	Is a	False	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
Opitz-Frias syndrome	Is a	True	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
Noonan syndrome	Is a	False	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
Bovine achondroplasia	Is a	False	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
Noonan's syndrome (disorder)	Is a	True	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.	Is a	True	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.	Is a	True	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
Robinow-like syndrome	Is a	False	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.	Is a	True	Multiple malformation syndrome, moderate short stature, facial	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
128959018	Multiple malformation syndrome, moderate short stature, facial	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
128961010	Multiple malformation syndrome, moderate short stature, facial with or without genital features	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
818561014	Multiple malformation syndrome, moderate short stature, facial (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2009701000005117	Multipelt misdannelsessyndrom med moderat kort statur og involvering af ansigtet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)