724208006: Keutel syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Keutel syndrome (disorder)
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Keutel syndrome (disorder)

\Viscus structure finding (finding)\Lung finding\Disorder of lung (disorder)\...

\Lesion of lung (disorder)\Peripheral pulmonary artery stenosis (disorder)\Congenital peripheral pulmonary artery stenosis\Keutel syndrome (disorder)

\Congenital anomaly of lung\Congenital peripheral pulmonary artery stenosis\Keutel syndrome (disorder)

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Keutel syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Keutel syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly\Keutel syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital abnormal shape of digit\Brachydactyly\Keutel syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Keutel syndrome (disorder)

\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Keutel syndrome (disorder)
\Musculoskeletal finding\Cartilage finding\Cartilage disorder\Congenital anomaly of cartilage\Keutel syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Keutel syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Keutel syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Keutel syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Musculoskeletal and connective tissue disorder (disorder)\Cartilage disorder\Congenital anomaly of cartilage\Keutel syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Degenerative disorder of cartilage\Chondrocalcinosis (disorder)\Keutel syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Cartilage disorder\Congenital anomaly of cartilage\Keutel syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of cartilage\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

3432367013 Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterised by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3777436019 Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterized by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

This concept is not in any reference sets

Back to Start

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
3432367013	Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterised by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777436019	Syndrome with characteristics of diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. The abnormal calcification principally involves the cartilage of the ears, nose, larynx and the tracheobronchial tree. Epiphyseal stippling of the long bones and calcification of the spinal column vertebrae have also been reported. The dysmorphism is characterized by an elongated face with maxillary and midface hypoplasia. Other associated features may include hearing loss and recurrent otitis and/or sinusitis, mild intellectual deficit, frequent respiratory infections, nasal speech and, more rarely, seizures and short stature. The syndrome is caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). The syndrome is transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core