724208006: Keutel syndrome (disorder)

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

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Keutel syndrome

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

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3432365017 Keutel syndrome en Synonym Active Case sensitive SNOMED CT core

3432366016 Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Keutel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Keutel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Keutel syndrome	Associated morphology	Pathologic calcification	true	Inferred relationship	Some	4
Keutel syndrome	Finding site	Cartilage structure	true	Inferred relationship	Some	4
Keutel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Keutel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Keutel syndrome	Is a	Congenital anomaly of cartilage	true	Inferred relationship	Some
Keutel syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Keutel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Keutel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Keutel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Keutel syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Keutel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Keutel syndrome	Associated morphology	Congenital stenosis	false	Inferred relationship	Some	1
Keutel syndrome	Finding site	Pulmonary artery within lung	true	Inferred relationship	Some	1
Keutel syndrome	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	3
Keutel syndrome	Finding site	Digit structure	true	Inferred relationship	Some	3
Keutel syndrome	Associated morphology	Stenosis	true	Inferred relationship	Some	1
Keutel syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Keutel syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Keutel syndrome	Is a	Brachydactyly	true	Inferred relationship	Some
Keutel syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Keutel syndrome	Is a	Chondrocalcinosis	true	Inferred relationship	Some
Keutel syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Keutel syndrome	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Keutel syndrome	Is a	Inherited disorder of connective tissue	true	Inferred relationship	Some
Keutel syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Keutel syndrome	Is a	Congenital peripheral pulmonary artery stenosis	true	Inferred relationship	Some
Keutel syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Keutel syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Keutel syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Keutel syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Keutel syndrome	Associated morphology	Pathologic calcification	false	Inferred relationship	Some	5
Keutel syndrome	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some	5
Keutel syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	8
Keutel syndrome	Finding site	Digit structure	false	Inferred relationship	Some	8
Keutel syndrome	Associated morphology	Congenital stenosis	false	Inferred relationship	Some	7
Keutel syndrome	Finding site	Pulmonary artery within lung	false	Inferred relationship	Some	7
Keutel syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Keutel syndrome	Finding site	Face structure	false	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Respiratory finding reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3432364018	Keutel syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3432365017	Keutel syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3432366016	Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core