723578001: Terminal osseous dysplasia and pigmentary defect syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \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\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \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\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \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\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin deposits\Hyperpigmentation of skin\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Developmental disorder\Developmental hereditary disorder\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Developmental disorder\Developmental hereditary disorder\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A primary bone dysplasia disorder that encompasses a group of congenital anomalies that are characterised by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group includes otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterised in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Inherited cutaneous hyperpigmentation\Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

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
5403114011	Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403115012	Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3425158015	Terminal osseous dysplasia and pigmentary defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425159011	Terminal osseous dysplasia and pigmentary defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1000411000172115	syndrome de dysplasie osseuse terminale-défauts de pigmentation	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442291001000115	Terminale Knochendysplasie - Pigmentstörungen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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