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764957003: King-Denborough-syndroom (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3655766014 King Denborough syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655767017 King Denborough syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655768010 Koussef Nichols syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6093661000146116 syndroom van King-Denborough nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6849031000146113 syndroom van Koussef-Nichols nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10668921000146110 King-Denborough-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10668931000146112 King-Denborough-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3655680010 A rare genetic non-dystrophic myopathy with characteristics of the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and myopathic facies (with or without creatine kinase elevations), skeletal abnormalities (short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. 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
King Denborough syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
King Denborough syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
King Denborough syndrome Is a Congenital anomaly of skeletal muscle true Inferred relationship Some
King Denborough syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
King Denborough syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 2
King Denborough syndrome Occurrence Congenital true Inferred relationship Some 2
King Denborough syndrome Finding site Skeletal muscle structure true Inferred relationship Some 2
King Denborough syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 1
King Denborough syndrome Occurrence Congenital true Inferred relationship Some 1
King Denborough syndrome Finding site Face structure true Inferred relationship Some 1
King Denborough syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
King Denborough syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
King Denborough syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
King Denborough syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
King Denborough syndrome Is a Developmental hereditary disorder true Inferred relationship Some
King Denborough syndrome Is a Hereditary myopathy (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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