715472000: Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Reinhardt Pfeiffer mesomelic dysplasia

\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia

\Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Reinhardt Pfeiffer mesomelic dysplasia

\Musculoskeletal finding (finding)\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Hypoplasia of lower limb\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Congenital hypoplasia of fibula\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Hypoplasia of upper limb\Congenital hypoplasia of part of upper limb\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital hypoplasia of ulna\Reinhardt Pfeiffer mesomelic dysplasia
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Reinhardt Pfeiffer mesomelic dysplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3302744011 Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302745012 Mesomelic dysplasia of hypoplastic ulna and fibula type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302746013 Mesomelic dwarfism Reinhardt-Pfeiffer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302747016 Reinhardt Pfeiffer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302748014 Reinhardt Pfeiffer mesomelic dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400917018 A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400918011 A rare disorder characterised by disproportionate short stature from birth with dysplasia of the ulna and fibula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302744011 Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302744011 Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302745012 Mesomelic dysplasia of hypoplastic ulna and fibula type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302745012 Mesomelic dysplasia of hypoplastic ulna and fibula type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3302746013 Mesomelic dwarfism Reinhardt-Pfeiffer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3302747016 Reinhardt Pfeiffer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302748014 Reinhardt Pfeiffer mesomelic dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3302749018 Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400917018 A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400918011 A rare disorder characterised by disproportionate short stature from birth with dysplasia of the ulna and fibula. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3449381001000118 Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5475381000241117 dysplasie mésomélique de type hypoplasique ulna et fibula fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5475381000241117 dysplasie mésomélique de type hypoplasique ulna et fibula fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3449381001000118 Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Mesomelic dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Reinhardt Pfeiffer mesomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Reinhardt Pfeiffer mesomelic dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Reinhardt Pfeiffer mesomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reinhardt Pfeiffer mesomelic dysplasia	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reinhardt Pfeiffer mesomelic dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reinhardt Pfeiffer mesomelic dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reinhardt Pfeiffer mesomelic dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reinhardt Pfeiffer mesomelic dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reinhardt Pfeiffer mesomelic dysplasia	Clinical course	Progressive	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia	Interprets	Height / growth measure (observable entity)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Reinhardt Pfeiffer mesomelic dysplasia	Interprets	Limb length	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Reinhardt Pfeiffer mesomelic dysplasia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Short stature disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia	Interprets	Body height measure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Reinhardt Pfeiffer mesomelic dysplasia	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Reinhardt Pfeiffer mesomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Reinhardt Pfeiffer mesomelic dysplasia	Finding site	Bone structure of fibula	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Reinhardt Pfeiffer mesomelic dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Congenital hypoplasia of fibula	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia	Is a	Congenital hypoplasia of ulna	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Reinhardt Pfeiffer mesomelic dysplasia	Finding site	Bone structure of extremity	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Reinhardt Pfeiffer mesomelic dysplasia	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Reinhardt Pfeiffer mesomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Reinhardt Pfeiffer mesomelic dysplasia	Finding site	Bone structure of ulna	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Reinhardt Pfeiffer mesomelic dysplasia	Associated morphology	Hypoplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Reinhardt Pfeiffer mesomelic dysplasia	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302744011	Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302745012	Mesomelic dysplasia of hypoplastic ulna and fibula type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302746013	Mesomelic dwarfism Reinhardt-Pfeiffer type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302747016	Reinhardt Pfeiffer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302748014	Reinhardt Pfeiffer mesomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400917018	A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400918011	A rare disorder characterised by disproportionate short stature from birth with dysplasia of the ulna and fibula.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302744011	Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302744011	Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302745012	Mesomelic dysplasia of hypoplastic ulna and fibula type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302745012	Mesomelic dysplasia of hypoplastic ulna and fibula type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302746013	Mesomelic dwarfism Reinhardt-Pfeiffer type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3302747016	Reinhardt Pfeiffer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302748014	Reinhardt Pfeiffer mesomelic dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302749018	Disproportionate short stature present from birth with dysplasia of the ulna and fibula. Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described. The syndrome is transmitted in an autosomal dominant manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400917018	A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400918011	A rare disorder characterised by disproportionate short stature from birth with dysplasia of the ulna and fibula.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3449381001000118	Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5475381000241117	dysplasie mésomélique de type hypoplasique ulna et fibula	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5475381000241117	dysplasie mésomélique de type hypoplasique ulna et fibula	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3449381001000118	Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module