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722429003: syndrome d'anomalie des membres-micrognathie (trouble)


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
758701000241110 syndrome d'anomalie des membres-micrognathie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
868681000172110 microduplication 10q24 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
980021000172114 syndrome d'anomalie des membres-micrognathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Distal limb deficiency with micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Distal limb deficiency with micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Distal limb deficiency with micrognathia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Distal limb deficiency with micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Distal limb deficiency with micrognathia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Distal limb deficiency with micrognathia syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Distal limb deficiency with micrognathia syndrome (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 2
Distal limb deficiency with micrognathia syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Distal limb deficiency with micrognathia syndrome (disorder) localisation d'une constatation (attribut) os de la mandibule true Inferred relationship Some 1
Distal limb deficiency with micrognathia syndrome (disorder) morphologie associée (attribut) Partial trisomy true Inferred relationship Some 3
Distal limb deficiency with micrognathia syndrome (disorder) localisation d'une constatation (attribut) Entire limb true Inferred relationship Some 2
Distal limb deficiency with micrognathia syndrome (disorder) localisation d'une constatation (attribut) Chromosome pair 10 (cell structure) true Inferred relationship Some 3
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) anomalie morphologique congénitale false Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) Congenital micrognathism true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) Longitudinal deficiency of limb true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) 10q partial trisomy syndrome true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Distal limb deficiency with micrognathia syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 6
Distal limb deficiency with micrognathia syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Distal limb deficiency with micrognathia syndrome (disorder) localisation d'une constatation (attribut) os de la mandibule false Inferred relationship Some 6
Distal limb deficiency with micrognathia syndrome (disorder) morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) localisation d'une constatation (attribut) Entire limb false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) morphologie associée (attribut) Partial trisomy false Inferred relationship Some 5
Distal limb deficiency with micrognathia syndrome (disorder) localisation d'une constatation (attribut) Chromosome pair 10 (cell structure) false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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