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722429003: Distal limb deficiency with micrognathia 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
3331447019 Distal limb deficiency with micrognathia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332024011 Distal limb deficiency with micrognathia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332025012 10q24 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332026013 Buttiens Fryns syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402919012 The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402920018 The distal limb deficiencies-micrognathia syndrome is characterised by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331447019 Distal limb deficiency with micrognathia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3331447019 Distal limb deficiency with micrognathia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332024011 Distal limb deficiency with micrognathia syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3332024011 Distal limb deficiency with micrognathia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332025012 10q24 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3332025012 10q24 microduplication syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332026013 Buttiens Fryns syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3332027016 Syndrome with a combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency. Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia. A 10q24 duplication or triplication was detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402919012 The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402920018 The distal limb deficiencies-micrognathia syndrome is characterised by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1058821000195114 Distale Gliedmassenreduktionen-Mikrognathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
868681000172110 microduplication 10q24 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980021000172114 syndrome d'anomalie des membres-micrognathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
868681000172110 microduplication 10q24 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
980021000172114 syndrome d'anomalie des membres-micrognathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1058821000195114 Distale Gliedmassenreduktionen-Mikrognathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454481001000110 Distale Gliedmaßenreduktionen-Mikrognathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal limb deficiency with micrognathia syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Is a Congenital micrognathism true Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Is a Longitudinal deficiency of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Is a 10q partial trisomy syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal limb deficiency with micrognathia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Distal limb deficiency with micrognathia syndrome Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 6
Distal limb deficiency with micrognathia syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Distal limb deficiency with micrognathia syndrome Finding site Bone structure of mandible false Inferred relationship Existential restriction modifier (core metadata concept) 6
Distal limb deficiency with micrognathia syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal limb deficiency with micrognathia syndrome Finding site Entire limb false Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal limb deficiency with micrognathia syndrome Associated morphology Partial trisomy false Inferred relationship Existential restriction modifier (core metadata concept) 5
Distal limb deficiency with micrognathia syndrome Finding site Chromosome pair 10 false Inferred relationship Existential restriction modifier (core metadata concept) 5
Distal limb deficiency with micrognathia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal limb deficiency with micrognathia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal limb deficiency with micrognathia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal limb deficiency with micrognathia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal limb deficiency with micrognathia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal limb deficiency with micrognathia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal limb deficiency with micrognathia syndrome Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal limb deficiency with micrognathia syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal limb deficiency with micrognathia syndrome Finding site Bone structure of mandible true Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal limb deficiency with micrognathia syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal limb deficiency with micrognathia syndrome Finding site Entire limb true Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal limb deficiency with micrognathia syndrome Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal limb deficiency with micrognathia syndrome Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Distal limb deficiency with micrognathia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal limb deficiency with micrognathia syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal limb deficiency with micrognathia syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal limb deficiency with micrognathia syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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