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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
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) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Is a Congenital micrognathism true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Is a Longitudinal deficiency of limb true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Is a 10q partial trisomy syndrome true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Distal limb deficiency with micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Distal limb deficiency with micrognathia syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 6
Distal limb deficiency with micrognathia syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Distal limb deficiency with micrognathia syndrome (disorder) Finding site Bone structure of mandible false Inferred relationship Some 6
Distal limb deficiency with micrognathia syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) Finding site Entire limb false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) Associated morphology Partial trisomy false Inferred relationship Some 5
Distal limb deficiency with micrognathia syndrome (disorder) Finding site Chromosome pair 10 (cell structure) false Inferred relationship Some 5
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) Occurrence Congenital 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) Occurrence Congenital true Inferred relationship Some 2
Distal limb deficiency with micrognathia syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Distal limb deficiency with micrognathia syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 2
Distal limb deficiency with micrognathia syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Distal limb deficiency with micrognathia syndrome (disorder) Finding site Bone structure of mandible true Inferred relationship Some 1
Distal limb deficiency with micrognathia syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 3
Distal limb deficiency with micrognathia syndrome (disorder) Finding site Entire limb true Inferred relationship Some 2
Distal limb deficiency with micrognathia syndrome (disorder) Finding site Chromosome pair 10 (cell structure) true Inferred relationship Some 3
Distal limb deficiency with micrognathia syndrome (disorder) Is a Congenital deformity 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) Finding site Face structure false Inferred relationship Some 4
Distal limb deficiency with micrognathia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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US English

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