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1217225001: Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5035187012 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5035188019 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399918015 A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399919011 A rare genetic disease characterised by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5035187012 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5035188019 Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5035189010 A rare genetic disease with the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399918015 A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399919011 A rare genetic disease characterised by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3409731001000112 Klippel-Feil-Anomalie-Myopathie-Gesichtsdysmorphie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409731001000112 Klippel-Feil-Anomalie-Myopathie-Gesichtsdysmorphie-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
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Congenital anomaly of skeletal muscle (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Finding site Bone structure of cervical vertebra true Inferred relationship Existential restriction modifier (core metadata concept) 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Is a Klippel-Feil sequence (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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