721083007: Lymphedema hypoparathyroidism syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)

\Finding of limb structure\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Lymphedema hypoparathyroidism syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Lymphedema hypoparathyroidism syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Lymphedema hypoparathyroidism syndrome (disorder)

\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Lymphedema hypoparathyroidism syndrome (disorder)

\Oedema\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Lymphedema hypoparathyroidism syndrome (disorder)
\Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Lymphedema hypoparathyroidism syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\Lymphedema hypoparathyroidism syndrome (disorder)

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Lymphedema hypoparathyroidism syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Lymphedema hypoparathyroidism syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphedema\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Developmental disorder\Primary lymphedema\Hereditary lymphedema\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphedema\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Lymphedema hypoparathyroidism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lymphedema hypoparathyroidism 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

3323395011 Lymphedema hypoparathyroidism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323396012 Lymphedema hypoparathyroidism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323397015 Lymphoedema hypoparathyroidism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323398013 Dahlberg Borer Newcomer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3323399017 Dahlberg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402585018 A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402586017 A rare multiple congenital anomalies/dysmorphic syndrome characterised by the association of congenital hypoparathyroidism, nephropathy, congenital lymphoedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lymphedema hypoparathyroidism syndrome (disorder)	Associated morphology	Lymphatic edema	false	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Is a	Hypoparathyroidism	true	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Is a	Hereditary lymphedema	true	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Finding site	Parathyroid structure	false	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Has definitional manifestation	Decreased hormone secretion	false	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Lymphedema hypoparathyroidism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Lymphedema hypoparathyroidism syndrome (disorder)	Finding site	Ectoderm structure	false	Inferred relationship	Some	5
Lymphedema hypoparathyroidism syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	6
Lymphedema hypoparathyroidism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Lymphedema hypoparathyroidism syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	6
Lymphedema hypoparathyroidism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Lymphedema hypoparathyroidism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Lymphedema hypoparathyroidism syndrome (disorder)	Associated morphology	Lymphatic edema	true	Inferred relationship	Some	1
Lymphedema hypoparathyroidism syndrome (disorder)	Finding site	Parathyroid structure	false	Inferred relationship	Some	2
Lymphedema hypoparathyroidism syndrome (disorder)	Interprets	Hormone secretion	true	Inferred relationship	Some	3
Lymphedema hypoparathyroidism syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	3
Lymphedema hypoparathyroidism syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	2
Lymphedema hypoparathyroidism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Lymphedema hypoparathyroidism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Lymphedema hypoparathyroidism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lymphedema hypoparathyroidism syndrome (disorder)	Finding site	Parathyroid structure	true	Inferred relationship	Some	5
Lymphedema hypoparathyroidism syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	4
Lymphedema hypoparathyroidism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Lymphedema hypoparathyroidism syndrome (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	4
Lymphedema hypoparathyroidism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Lymphedema hypoparathyroidism syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	4
Lymphedema hypoparathyroidism syndrome (disorder)	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Lymphedema hypoparathyroidism syndrome (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	1
Lymphedema hypoparathyroidism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323395011	Lymphedema hypoparathyroidism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323396012	Lymphedema hypoparathyroidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323397015	Lymphoedema hypoparathyroidism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323398013	Dahlberg Borer Newcomer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323399017	Dahlberg syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402585018	A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402586017	A rare multiple congenital anomalies/dysmorphic syndrome characterised by the association of congenital hypoparathyroidism, nephropathy, congenital lymphoedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis, and nail abnormalities. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core