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724208006: Keutel syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3432364018 Keutel syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3432365017 Keutel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3432366016 Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403277017 A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403278010 A rare multiple congenital anomalies/dysmorphic syndrome characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. 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
Keutel syndrome (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Keutel syndrome (disorder) Is a Brachydactyly true Inferred relationship Some
Keutel syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Keutel syndrome (disorder) Is a Chondrocalcinosis (disorder) true Inferred relationship Some
Keutel syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Keutel syndrome (disorder) Is a Congenital connective tissue disorder false Inferred relationship Some
Keutel syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) true Inferred relationship Some
Keutel syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Keutel syndrome (disorder) Is a Congenital peripheral pulmonary artery stenosis true Inferred relationship Some
Keutel syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Keutel syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Keutel syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Keutel syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Keutel syndrome (disorder) Associated morphology Pathologic calcification false Inferred relationship Some 5
Keutel syndrome (disorder) Finding site Cartilaginous tissue structure false Inferred relationship Some 5
Keutel syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 8
Keutel syndrome (disorder) Finding site Digit structure false Inferred relationship Some 8
Keutel syndrome (disorder) Associated morphology Congenital stenosis false Inferred relationship Some 7
Keutel syndrome (disorder) Finding site Pulmonary artery within lung false Inferred relationship Some 7
Keutel syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 6
Keutel syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
Keutel syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Keutel syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Keutel syndrome (disorder) Associated morphology Pathologic calcification true Inferred relationship Some 4
Keutel syndrome (disorder) Finding site Cartilage structure (body structure) true Inferred relationship Some 4
Keutel syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Keutel syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Keutel syndrome (disorder) Is a Congenital anomaly of cartilage true Inferred relationship Some
Keutel syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Keutel syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Keutel syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Keutel syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Keutel syndrome (disorder) Finding site Face structure true Inferred relationship Some 2
Keutel syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Keutel syndrome (disorder) Associated morphology Congenital stenosis false Inferred relationship Some 1
Keutel syndrome (disorder) Finding site Pulmonary artery within lung true Inferred relationship Some 1
Keutel syndrome (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 3
Keutel syndrome (disorder) Finding site Digit structure true Inferred relationship Some 3
Keutel syndrome (disorder) Associated morphology Stenosis (morphologic abnormality) true Inferred relationship Some 1
Keutel syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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