722383001: Catel Manzke syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Catel Manzke syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Catel Manzke syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Catel Manzke syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Catel Manzke syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Catel Manzke syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Catel Manzke syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Catel Manzke syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Catel Manzke syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Catel Manzke syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Catel Manzke syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Catel Manzke syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Catel Manzke syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Catel Manzke syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Catel Manzke syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Catel Manzke syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of finger\Catel Manzke syndrome
\Disease\Disorder of extremity\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Catel Manzke syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Catel Manzke syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Catel Manzke syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Catel Manzke syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Catel Manzke syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Catel Manzke syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Catel Manzke syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Catel Manzke syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Catel Manzke syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Catel Manzke syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of finger\Catel Manzke syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of finger\Catel Manzke syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331772015 Catel Manzke syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3331773013 Catel Manzke syndrome en Synonym Active Case sensitive SNOMED CT core

3331776017 Micrognathia digital syndrome en Synonym Active Case insensitive SNOMED CT core

3331777014 Palatodigital syndrome Catel-Manzke type en Synonym Active Initial character case insensitive SNOMED CT core

3331782019 A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counseling is recommended. en Definition Active Case sensitive SNOMED CT core

3777380015 A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counselling is recommended. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Catel Manzke syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Catel Manzke syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Catel Manzke syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Catel Manzke syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Catel Manzke syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Catel Manzke syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Catel Manzke syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Catel Manzke syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Catel Manzke syndrome	Is a	Congenital anomaly of finger	true	Inferred relationship	Some
Catel Manzke syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Catel Manzke syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Catel Manzke syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Catel Manzke syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Catel Manzke syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Catel Manzke syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Catel Manzke syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Catel Manzke syndrome	Finding site	Index finger structure	true	Inferred relationship	Some	2
Catel Manzke syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Catel Manzke syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Catel Manzke syndrome	Finding site	Bone structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331772015	Catel Manzke syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3331773013	Catel Manzke syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331776017	Micrognathia digital syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331777014	Palatodigital syndrome Catel-Manzke type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3331782019	A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counseling is recommended.	en	Definition	Active	Case sensitive	SNOMED CT core
3777380015	A rare bone disease with anomaly of both index fingers (accessory ossicle at the metacarpophalangeal joint with resulting ulnar deviation) and typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. In 80% of cases, the digital abnormality is associated with Pierre Robin sequence. Additional frequently reported congenital malformations include cardiac defects such as ventricular septal defect and interatrial communication. Homozygous and compound heterozygous mutations in TGDS (13q32.1) have been implicated as causal in this syndrome. Transmission is autosomal recessive. Genetic counselling is recommended.	en	Definition	Active	Case sensitive	SNOMED CT core