732955001: Symphalangism with multiple anomalies of hands and feet syndrome (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Ankylosis of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Symphalangism with multiple anomalies of hands and feet syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Ankylosis of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Ankylosis of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Ankylosis of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Symphalangism\Symphalangism with multiple anomalies of hands and feet syndrome

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

3498437014 Symphalangism with multiple anomalies of hands and feet en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498438016 Symphalangism with multiple anomalies of hands and feet syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498439012 Learman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498440014 Symphalangism with multiple anomalies of hands and feet syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499923019 An exceedingly rare syndrome described in one family and with characteristics of proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

7594301000172117 syndrome de symphalangisme et anomalies multiples des mains et des pieds fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7594311000172119 syndrome de Learman fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5455891000172119 syndroom van symfalangisme met meervoudige anomalieën van handen en voeten nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5455901000172115 syndroom van symfalangisme met meervoudige afwijkingen van handen en voeten nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5455911000172117 syndroom van Learman nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Symphalangism with multiple anomalies of hands and feet syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Symphalangism with multiple anomalies of hands and feet syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Symphalangism with multiple anomalies of hands and feet syndrome	Is a	Symphalangism	true	Inferred relationship	Some
Symphalangism with multiple anomalies of hands and feet syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Symphalangism with multiple anomalies of hands and feet syndrome	Associated morphology	Congenital ankylosis	false	Inferred relationship	Some	1
Symphalangism with multiple anomalies of hands and feet syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Symphalangism with multiple anomalies of hands and feet syndrome	Finding site	Interphalangeal joint structure (body structure)	true	Inferred relationship	Some	1
Symphalangism with multiple anomalies of hands and feet syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Symphalangism with multiple anomalies of hands and feet syndrome	Associated morphology	Ankylosis	true	Inferred relationship	Some	1
Symphalangism with multiple anomalies of hands and feet syndrome	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
3498437014	Symphalangism with multiple anomalies of hands and feet	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498438016	Symphalangism with multiple anomalies of hands and feet syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498439012	Learman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498440014	Symphalangism with multiple anomalies of hands and feet syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499923019	An exceedingly rare syndrome described in one family and with characteristics of proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7594301000172117	syndrome de symphalangisme et anomalies multiples des mains et des pieds	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7594311000172119	syndrome de Learman	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5455891000172119	syndroom van symfalangisme met meervoudige anomalieën van handen en voeten	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5455901000172115	syndroom van symfalangisme met meervoudige afwijkingen van handen en voeten	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5455911000172117	syndroom van Learman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)