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

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

Descriptions:

Id Description Lang Type Status Case? Module

3432364018 Keutel syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3432365017 Keutel syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3432366016 Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

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	SNOMED CT core module
3432365017	Keutel syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3432366016	Pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module