1263481007: Mesomelic dysplasia of lower limb (disorder)

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

\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 tibia\Mesomelic dysplasia of lower limb
\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\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Finding of lower limb (finding)\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Finding of lower limb (finding)\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\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 tibia\Mesomelic dysplasia of lower limb
\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\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb

\Musculoskeletal finding (finding)\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Musculoskeletal finding (finding)\Bone finding\Finding of bone of lower limb (finding)\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\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\Mesomelic dysplasia of lower limb
\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 tibia\Mesomelic dysplasia of lower limb
\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\Mesomelic dysplasia of lower limb
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\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 dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\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 tibia\Mesomelic dysplasia of lower limb
\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\Mesomelic dysplasia of lower limb
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\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\Mesomelic dysplasia of lower limb
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\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\Mesomelic dysplasia of lower limb
\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 tibia\Mesomelic dysplasia of lower limb
\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\Mesomelic dysplasia of lower limb
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Disease\Disorder of limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Disease\Disorder of limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of lower leg (disorder)\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Disease\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Mesomelic dysplasia\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital dysplasia of lower limb (disorder)\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of tibia\Mesomelic dysplasia of lower limb
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of fibula\Mesomelic dysplasia of lower limb

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5168849012 Mesomelic dysplasia of lower limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5168850012 Mesomelic dysplasia of lower limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5168849012 Mesomelic dysplasia of lower limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5168850012 Mesomelic dysplasia of lower limb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mesomelic dysplasia of lower limb	Is a	Mesomelic dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia of lower limb	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia of lower limb	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia of lower limb	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia of lower limb	Is a	Congenital anomaly of fibula	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia of lower limb	Is a	Congenital anomaly of tibia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Mesomelic dysplasia of lower limb	Interprets	Tibia length	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mesomelic dysplasia of lower limb	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mesomelic dysplasia of lower limb	Interprets	Length of fibula	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mesomelic dysplasia of lower limb	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mesomelic dysplasia of lower limb	Finding site	Bone structure of tibia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mesomelic dysplasia of lower limb	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia of lower limb	Finding site	Bone structure of fibula	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia of lower limb	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia of lower limb	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mesomelic dysplasia of lower limb	Is a	Congenital dysplasia of lower limb (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.	Is a	True	Mesomelic dysplasia of lower limb	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets