721083007: Lymphedema hypoparathyroidism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome

\Finding of limb structure\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Dahlberg Borer Newcomer syndrome
\Finding of limb structure\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Dahlberg Borer Newcomer syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Dahlberg Borer Newcomer syndrome

\Oedema\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Dahlberg Borer Newcomer syndrome
\Oedema\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Dahlberg Borer Newcomer syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome

\Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of parathyroid gland\Hypoparathyroidism\Dahlberg Borer Newcomer syndrome

\Functional finding\Decline in functional status\Decreased hormone secretion\Hypoparathyroidism\Dahlberg Borer Newcomer syndrome

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Dahlberg Borer Newcomer syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Dahlberg Borer Newcomer syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Dahlberg Borer Newcomer syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Dahlberg Borer Newcomer syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphoedema\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland\Hypoparathyroidism\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of neck\Disorder of parathyroid gland\Hypoparathyroidism\Dahlberg Borer Newcomer syndrome
\Disease\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Dahlberg Borer Newcomer syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Dahlberg Borer Newcomer syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Dahlberg Borer Newcomer syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome
\Disease\Developmental disorder\Primary lymphoedema\Hereditary lymphoedema\Dahlberg Borer Newcomer syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphoedema\Dahlberg Borer Newcomer syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Dahlberg Borer Newcomer syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Dahlberg Borer Newcomer syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dahlberg Borer Newcomer syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3323396012 Lymphedema hypoparathyroidism syndrome en Synonym Active Case insensitive SNOMED CT core

3323397015 Lymphoedema hypoparathyroidism syndrome en Synonym Active Case insensitive SNOMED CT core

3323398013 Dahlberg Borer Newcomer syndrome en Synonym Active Case sensitive SNOMED CT core

3323399017 Dahlberg syndrome en Synonym Active Case sensitive SNOMED CT core

3323400012 A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities. en Definition Active Case sensitive SNOMED CT core

3323401011 A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterised by the association of hypoparathyroidism, nephropathy, congenital lymphoedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323395011	Lymphedema hypoparathyroidism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323396012	Lymphedema hypoparathyroidism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323397015	Lymphoedema hypoparathyroidism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323398013	Dahlberg Borer Newcomer syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323399017	Dahlberg syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323400012	A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core
3323401011	A very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterised by the association of hypoparathyroidism, nephropathy, congenital lymphoedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichosis and nail abnormalities.	en	Definition	Active	Case sensitive	SNOMED CT core