722383001: Catel Manzke syndrome (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger (finding)\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger\Catel Manzke syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger\Catel Manzke syndrome (disorder)

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case sensitive (core metadata concept) SNOMED CT core

3331773013 Catel Manzke syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331776017 Micrognathia digital syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331777014 Palatodigital syndrome Catel-Manzke type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5538201000172112 syndrome de type Catel-Manzke fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5538221000172117 syndrome de Pierre Robin, hyperphalangie et clinodactylie fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5538231000172119 syndrome palatodigital de Catel-Manzke fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5538211000172110 palatodigitaal syndroom type Catel-Manzke nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5538241000172114 syndroom van Catel-Manzke nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5538251000172111 Catel-Manzke-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Catel Manzke syndrome (disorder)	Is a	Congenital anomaly of finger	true	Inferred relationship	Some
Catel Manzke syndrome (disorder)	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Catel Manzke syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Catel Manzke syndrome (disorder)	Is a	Dysostosis	true	Inferred relationship	Some
Catel Manzke syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Catel Manzke syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Catel Manzke syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Catel Manzke syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Catel Manzke syndrome (disorder)	Finding site	Index finger structure	true	Inferred relationship	Some	2
Catel Manzke syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Catel Manzke syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Catel Manzke syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	3
Catel Manzke syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Catel Manzke syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Catel Manzke syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Catel Manzke syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Catel Manzke syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Catel Manzke syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Catel Manzke syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Catel Manzke 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
3331772015	Catel Manzke syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331773013	Catel Manzke syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331776017	Micrognathia digital syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331777014	Palatodigital syndrome Catel-Manzke type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5538201000172112	syndrome de type Catel-Manzke	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5538221000172117	syndrome de Pierre Robin, hyperphalangie et clinodactylie	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5538231000172119	syndrome palatodigital de Catel-Manzke	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5538211000172110	palatodigitaal syndroom type Catel-Manzke	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5538241000172114	syndroom van Catel-Manzke	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5538251000172111	Catel-Manzke-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)